Canonical Allele Identifier: CA1713854720

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961003_65961004delinsCT , CM000669.2:g.65961003_65961004delinsCT	GRCh38
NC_000007.13:g.65425990_65425991delinsCT , CM000669.1:g.65425990_65425991delinsCT	GRCh37
NC_000007.12:g.65063425_65063426delinsCT	NCBI36
NG_016197.1:g.26311_26312delinsAG
NG_051954.1:g.92905_92906delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1849_1850delinsAG MANE Select	ENSP00000302728.4:p.Ser617=
ENST00000304895.8:c.1849_1850delinsAG	ENSP00000302728.4:p.Ser617=
ENST00000421103.5:c.1411_1412delinsAG	ENSP00000391390.1:p.Ser471=
ENST00000430730.5:c.*1116_*1117delinsAG	ENSP00000411859.1:n.*1116_*1117delinsAG
ENST00000447929.5:c.*1229_*1230delinsAG	ENSP00000411262.1:n.*1229_*1230delinsAG
ENST00000466883.5:n.2239_2240delinsAG
NM_000181.3:c.1849_1850delinsAG	NP_000172.2:p.Ser617=
NM_001284290.1:c.1411_1412delinsAG	NP_001271219.1:p.Ser471=
NM_001293104.1:c.1279_1280delinsAG	NP_001280033.1:p.Ser427=
NM_001293105.1:c.1192_1193delinsAG	NP_001280034.1:p.Ser398=
NR_120531.1:n.1895_1896delinsAG
XM_005250297.3:c.1696_1697delinsAG	XP_005250354.1:p.Ser566=
XM_011516113.1:c.1348_1349delinsAG	XP_011514415.1:p.Ser450=
XM_011516114.1:c.1177_1178delinsAG	XP_011514416.1:p.Ser393=
XM_005250297.4:c.1696_1697delinsAG	XP_005250354.1:p.Ser566=
XM_011516114.2:c.1177_1178delinsAG	XP_011514416.1:p.Ser393=
XM_017012091.1:c.1195_1196delinsAG	XP_016867580.1:p.Ser399=
XM_017012092.1:c.1126_1127delinsAG	XP_016867581.1:p.Ser376=
XM_017012093.2:c.1024_1025delinsAG	XP_016867582.1:p.Ser342=
XR_001744658.2:n.1656_1657delinsAG
XR_001744659.2:n.1769_1770delinsAG
XR_001744660.2:n.1701_1702delinsAG
XR_001744661.2:n.1616_1617delinsAG
XR_927461.3:n.1854_1855delinsAG
NM_000181.4:c.1849_1850delinsAG MANE Select	NP_000172.2:p.Ser617=
NM_001284290.2:c.1411_1412delinsAG	NP_001271219.1:p.Ser471=
NM_001293104.2:c.1279_1280delinsAG	NP_001280033.1:p.Ser427=
NM_001293105.2:c.1192_1193delinsAG	NP_001280034.1:p.Ser398=
NR_120531.2:n.1794_1795delinsAG